#AJMG

Myhre syndrome
SMAD4 p.Ile500Val Gain-of-function

2 ♀️Cases
Comprehensive Histopathology
Multi-organ, +ovary fibrosis

Pulmonary/Renal/Iliac Artery Medial hypertrophy
Aorta Medial degeneration, nodular SMC hyperplasia

#AJMG 2025 @markelindsay.bsky.social
onlinelibrary.wiley.com/doi/10.1002/...

Integrative multi‐omics analysis of genomic, epigenomic, and metabolomics data leads to new insights for Attention‐Deficit/Hyperactivity Disorder The evolving field of multi-omics combines data and provides methods for simultaneous analysis across several omics levels. Here, we integrated genomics (transmitted and non-transmitted polygenic sco...

Good news! @hubersnikki.bsky.social article about multi-omics analysis of ADHD achieved the Top Viewed Article status from #AJMG of articles published in 2023. Read it here onlinelibrary.wiley.com/doi/full/10.... #TopViewedArticle @wiley.com @ntrbiopsy.bsky.social @fionahagenbeek.bsky.social